Early diagnosis of prostate cancer in healthy men with germline mutations in DNA Damage Response (DDR) pathways: A literature review and proposal for a screening strategy.

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Tác giả: I Barceló Bayonas, T Fernández Aparicio, E García Torralba, E Girela Baena, J A Macías Cerrolaza, V Muñoz Guillermo, A Rosino Sánchez, J Tudela Pallares, M Zafra Povés

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: Spain : Actas urologicas espanolas , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 179757

INTRODUCTION: Men with mutations in DNA damage response (DDR) pathways have a higher risk of developing prostate neoplasia compared to the general population. The best studied alterations are mutations in BRCA1/2, ATM and MMR-Lynch s. MATERIAL AND METHODS: A review of the clinical and prognostic implications of mutations in DDR pathways, as well as an evaluation of the different screening strategies available for affected patients. OBJECTIVE: To propose an early diagnostic strategy for men with mutations in DDR pathways. RESULTS: Current guidelines do not provide clear, specific recommendations for this subgroup of men. Among mutations in the MMR pathway, the germline MSH2 mutation is most strongly associated with prostate cancer. Men with germline mutations in BRCA1/2, ATM, and MSH2 have a higher incidence of prostate neoplasia, tend to develop the disease at a younger age, and are more likely to have aggressive forms of the disease. Furthermore, men with BRCA1/2 mutations have a lower cancer-specific survival rate compared to the general population. In these patients, PSA levels have important limitations in detecting prostate cancer. Multiparametric MRI of the prostate may be more effective than periodic PSA testing. CONCLUSIONS: Patients with mutations in DDR pathways are at increased risk for aggressive prostate neoplasms and require earlier and more intensive screening. PSA-based screening has notable limitations. A screening strategy incorporating multiparametric MRI could offer a more effective strategy for this patient group.
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